ZECH, M., R. JECH, S. BOESCH, M. SKORVANEK, J. NECPAL, J. SVANTNEROVA, M. WAGNER, A. SADR-NABAVI, F. DISTELMAIER, M. KRENN, T. SERRANOVA, Irena REKTOROVÁ, P. HAVRANKOVA, A. MOSEJOVA, I. PRIHODOVA, J. SARLAKOVA, K. KULCSAROVA, O. ULMANOVA, K. BECHYNE, M. OSTROZOVICOVA, V. HAN, J. R. VENTOSA, T. BRUNET, R. BERUTTI, M. SHARIATI, A. SHOEIBI, S. A. SCHNEIDER, A. KUSTER, M. BAUMANN, D. WEISE, F. WILBERT, W. G. JANZARIK, M. ECKENWEILER, V. MALL, B. HASLINGER, S. BERWECK, J. WINKELMANN a K. OEXLE. Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study. Movement Disorders. Hoboken: Wiley-Blackwell, roč. 36, č. 8, s. 1959-1964. ISSN 0885-3185. doi:10.1002/mds.28614. 2021.
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Základní údaje
Originální název Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study
Autoři ZECH, M. (garant), R. JECH, S. BOESCH, M. SKORVANEK, J. NECPAL, J. SVANTNEROVA, M. WAGNER, A. SADR-NABAVI, F. DISTELMAIER, M. KRENN, T. SERRANOVA, Irena REKTOROVÁ (203 Česká republika, domácí), P. HAVRANKOVA, A. MOSEJOVA, I. PRIHODOVA, J. SARLAKOVA, K. KULCSAROVA, O. ULMANOVA, K. BECHYNE, M. OSTROZOVICOVA, V. HAN, J. R. VENTOSA, T. BRUNET, R. BERUTTI, M. SHARIATI, A. SHOEIBI, S. A. SCHNEIDER, A. KUSTER, M. BAUMANN, D. WEISE, F. WILBERT, W. G. JANZARIK, M. ECKENWEILER, V. MALL, B. HASLINGER, S. BERWECK, J. WINKELMANN a K. OEXLE.
Vydání Movement Disorders, Hoboken, Wiley-Blackwell, 2021, 0885-3185.
Další údaje
Originální jazyk angličtina
Typ výsledku Článek v odborném periodiku
Obor 30210 Clinical neurology
Stát vydavatele Spojené státy
Utajení není předmětem státního či obchodního tajemství
WWW URL
Impakt faktor Impact factor: 9.698
Kód RIV RIV/00216224:14110/21:00121975
Organizační jednotka Lékařská fakulta
Doi http://dx.doi.org/10.1002/mds.28614
UT WoS 000647023100001
Klíčová slova anglicky exome sequencing; diagnostic yield; dystonia; prediction; scoring algorithm; rare disease
Štítky 14110127, podil, rivok
Příznaky Mezinárodní význam, Recenzováno
Změnil Změnila: Mgr. Tereza Miškechová, učo 341652. Změněno: 17. 5. 2022 10:21.
Anotace
Background Despite the established value of genomic testing strategies, practice guidelines for their use do not exist in many indications. Objectives We sought to validate a recently introduced scoring algorithm for dystonia, predicting the diagnostic utility of whole-exome sequencing (WES) based on individual phenotypic aspects (age-at-onset, body distribution, presenting comorbidity). Methods We prospectively enrolled a set of 209 dystonia-affected families and obtained summary scores (0-5 points) according to the algorithm. Singleton (N = 146), duo (N = 11), and trio (N = 52) WES data were generated to identify genetic diagnoses. Results Diagnostic yield was highest (51%) among individuals with a summary score of 5, corresponding to a manifestation of early-onset segmental or generalized dystonia with coexisting non-movement disorder-related neurological symptoms. Sensitivity and specificity at the previously suggested threshold for implementation of WES (3 points) was 96% and 52%, with area under the curve of 0.81. Conclusions The algorithm is a useful predictive tool and could be integrated into dystonia routine diagnostic protocols. (c) 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society
Návaznosti
825575, interní kód MUNázev: European Joint Programme on Rare Diseases (Akronym: EJP RD)
Investor: Evropská unie, European Joint Programme on Rare Diseases, Health, demographic change and wellbeing (Societal Challenges)
VytisknoutZobrazeno: 29. 3. 2024 14:30